Incidental Mutation 'IGL02837:Ntsr2'
ID 391928
Institutional Source Beutler Lab
Gene Symbol Ntsr2
Ensembl Gene ENSMUSG00000020591
Gene Name neurotensin receptor 2
Synonyms NTRL, NT2R
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL02837 (G1)
Quality Score 107
Status Validated
Chromosome 12
Chromosomal Location 16703477-16710223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16703876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 126 (V126M)
Ref Sequence ENSEMBL: ENSMUSP00000106693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111064] [ENSMUST00000220892] [ENSMUST00000221049] [ENSMUST00000221596]
AlphaFold P70310
Predicted Effect probably damaging
Transcript: ENSMUST00000111064
AA Change: V126M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106693
Gene: ENSMUSG00000020591
AA Change: V126M

DomainStartEndE-ValueType
Pfam:7tm_1 49 358 4.2e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000220892
AA Change: V126M

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000221049
AA Change: V40M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000221596
AA Change: V126M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222957
Meta Mutation Damage Score 0.1622 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. Binding and pharmacological studies demonstrate that this receptor binds neurotensin as well as several other ligands already described for neurotensin NT1 receptor. However, unlike NT1 receptor, this gene recognizes, with high affinity, levocabastine, a histamine H1 receptor antagonist previously shown to compete with neurotensin for low-affinity binding sites in brain. These activities suggest that this receptor may be of physiological importance and that a natural agonist for the receptor may exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit abnormal thermal nociception. Mice homozygous for different knock-out allele exhibit increased prepulse inhibition and decreased accoustic startle response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 36,268,473 (GRCm39) V786I probably benign Het
Adamts13 A G 2: 26,881,432 (GRCm39) N803S probably benign Het
Ago4 C G 4: 126,391,093 (GRCm39) G730R possibly damaging Het
Amn T A 12: 111,238,333 (GRCm39) M55K possibly damaging Het
Apob A T 12: 8,055,102 (GRCm39) Y1334F probably damaging Het
Arl14ep A C 2: 106,799,574 (GRCm39) L89R probably damaging Het
Bcam T G 7: 19,498,111 (GRCm39) E304A probably damaging Het
Car10 A T 11: 93,488,077 (GRCm39) Y258F probably damaging Het
Cerk T A 15: 86,028,896 (GRCm39) K82* probably null Het
Chac2 T C 11: 30,927,496 (GRCm39) N141S probably damaging Het
Clpx T G 9: 65,231,541 (GRCm39) L556R probably damaging Het
Csgalnact2 T C 6: 118,101,364 (GRCm39) I55V probably benign Het
Cul1 T C 6: 47,500,139 (GRCm39) V650A probably benign Het
Dnah5 A T 15: 28,269,546 (GRCm39) E895D probably benign Het
Dnah9 T C 11: 65,765,022 (GRCm39) K3841E probably damaging Het
Dpys A G 15: 39,720,701 (GRCm39) S20P probably damaging Het
Fat1 G A 8: 45,470,471 (GRCm39) V1490I probably benign Het
Flg2 T G 3: 93,109,044 (GRCm39) C357W probably damaging Het
Flt1 T A 5: 147,591,980 (GRCm39) D494V probably benign Het
Fpr-rs4 T A 17: 18,242,513 (GRCm39) D173E probably benign Het
Gm2666 G T 1: 85,412,824 (GRCm39) noncoding transcript Het
Gm3867 C A 9: 36,169,096 (GRCm39) noncoding transcript Het
Gm5436 A T 12: 84,305,374 (GRCm39) noncoding transcript Het
Kit G A 5: 75,799,668 (GRCm39) V467I probably benign Het
Krtap4-16 A G 11: 99,741,863 (GRCm39) V179A unknown Het
Lrp8 C A 4: 107,718,478 (GRCm39) H693Q probably benign Het
Lrrc49 A G 9: 60,517,605 (GRCm39) S75P probably benign Het
Ltbp4 C A 7: 27,013,806 (GRCm39) V1068L probably damaging Het
Magel2 C T 7: 62,028,008 (GRCm39) P304L possibly damaging Het
Muc19 T A 15: 91,766,850 (GRCm39) noncoding transcript Het
Npas3 T C 12: 53,993,980 (GRCm39) V175A possibly damaging Het
Nr1h4 A T 10: 89,352,342 (GRCm39) H8Q probably benign Het
Odf2 A T 2: 29,816,725 (GRCm39) T725S probably damaging Het
Or52e19b C T 7: 103,032,822 (GRCm39) C129Y probably damaging Het
Or5h17 C T 16: 58,820,909 (GRCm39) P287L probably damaging Het
Or9s13 T C 1: 92,548,404 (GRCm39) Y259H possibly damaging Het
Pgr T C 9: 8,946,639 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,603,562 (GRCm39) C249* probably null Het
Plcd3 C T 11: 102,961,929 (GRCm39) V726M possibly damaging Het
Prl8a1 A G 13: 27,759,617 (GRCm39) L140P probably damaging Het
Prpf6 C A 2: 181,264,056 (GRCm39) D239E probably damaging Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Rimbp2 G T 5: 128,874,809 (GRCm39) Q268K probably damaging Het
Rps19-ps13 A T 18: 40,859,447 (GRCm39) noncoding transcript Het
Sema4c C A 1: 36,591,965 (GRCm39) G266V probably damaging Het
Sema4g T C 19: 44,985,150 (GRCm39) F156S probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Speer4f1 G T 5: 17,685,381 (GRCm39) L225F unknown Het
Thrap3 T C 4: 126,059,157 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,568 (GRCm39) E497G probably benign Het
Trim3 T C 7: 105,261,863 (GRCm39) N631S probably damaging Het
Trim45 C T 3: 100,838,943 (GRCm39) probably benign Het
Wdr43 A G 17: 71,949,731 (GRCm39) D445G probably benign Het
Other mutations in Ntsr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Ntsr2 APN 12 16,709,849 (GRCm39) missense probably damaging 0.97
IGL01973:Ntsr2 APN 12 16,706,775 (GRCm39) missense probably benign 0.01
IGL02202:Ntsr2 APN 12 16,703,661 (GRCm39) missense probably damaging 0.99
IGL02493:Ntsr2 APN 12 16,708,390 (GRCm39) missense possibly damaging 0.90
R0066:Ntsr2 UTSW 12 16,704,120 (GRCm39) missense probably benign 0.09
R0066:Ntsr2 UTSW 12 16,704,120 (GRCm39) missense probably benign 0.09
R0381:Ntsr2 UTSW 12 16,709,719 (GRCm39) nonsense probably null
R0437:Ntsr2 UTSW 12 16,703,696 (GRCm39) missense probably damaging 1.00
R0666:Ntsr2 UTSW 12 16,703,981 (GRCm39) missense probably benign 0.28
R0751:Ntsr2 UTSW 12 16,704,031 (GRCm39) missense probably damaging 1.00
R1919:Ntsr2 UTSW 12 16,704,111 (GRCm39) missense probably damaging 0.96
R2190:Ntsr2 UTSW 12 16,704,018 (GRCm39) missense probably damaging 1.00
R5323:Ntsr2 UTSW 12 16,709,934 (GRCm39) missense probably benign 0.00
R5358:Ntsr2 UTSW 12 16,704,083 (GRCm39) missense probably damaging 1.00
R6282:Ntsr2 UTSW 12 16,708,426 (GRCm39) missense probably damaging 1.00
R6358:Ntsr2 UTSW 12 16,706,769 (GRCm39) missense probably benign 0.29
R6523:Ntsr2 UTSW 12 16,706,697 (GRCm39) missense probably benign 0.05
R6837:Ntsr2 UTSW 12 16,709,710 (GRCm39) missense probably benign 0.04
R8396:Ntsr2 UTSW 12 16,706,821 (GRCm39) missense probably damaging 1.00
R8418:Ntsr2 UTSW 12 16,706,662 (GRCm39) missense possibly damaging 0.83
R8784:Ntsr2 UTSW 12 16,706,852 (GRCm39) missense probably damaging 0.99
RF017:Ntsr2 UTSW 12 16,709,766 (GRCm39) missense probably damaging 0.99
X0064:Ntsr2 UTSW 12 16,706,758 (GRCm39) missense probably damaging 1.00
Z1177:Ntsr2 UTSW 12 16,703,663 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TTCCCAGAAAGGAGGTGGTG -3'
(R):5'- ACCTGGATGAAGACCTGGAG -3'

Sequencing Primer
(F):5'- ATCTTCGCGCTTGGCACAG -3'
(R):5'- TGGCGCGACTTACTAGCAC -3'
Posted On 2016-06-08